Mutagenetix > Incidental Mutation

Incidental Mutation 'R0037:Ankrd61'

15641

Institutional Source

Beutler Lab

Gene Symbol

Ankrd61

Ensembl Gene

ENSMUSG00000029607

Gene Name

ankyrin repeat domain 61

Synonyms

4921520G13Rik

MMRRC Submission

038331-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.089) question?

Stock #

R0037 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

143827455-143831885 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 143831795 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 3 (N3S)

Ref Sequence

ENSEMBL: ENSMUSP00000106345 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000079624] [ENSMUST00000100487] [ENSMUST00000110717] [ENSMUST00000110718]

AlphaFold

Q9CQM6

Predicted Effect

probably benign
Transcript: ENSMUST00000079624

SMART Domains

Protein: ENSMUSP00000078571
Gene: ENSMUSG00000029607

Domain	Start	End	E-Value	Type
ANK	36	61	2.55e2	SMART
ANK	65	118	8.5e2	SMART
ANK	124	153	1.27e-2	SMART
ANK	157	186	7.95e-4	SMART
ANK	191	230	3.74e0	SMART
ANK	234	263	3.46e-4	SMART
Blast:ANK	267	300	4e-11	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000100487

SMART Domains

Protein: ENSMUSP00000098056
Gene: ENSMUSG00000029613

Domain	Start	End	E-Value	Type
low complexity region	12	28	N/A	INTRINSIC
low complexity region	62	81	N/A	INTRINSIC
Pfam:Pkinase_Tyr	167	242	5.6e-6	PFAM
Pfam:Pkinase	167	257	1.9e-15	PFAM
low complexity region	314	320	N/A	INTRINSIC
Pfam:Pkinase	365	580	1.3e-31	PFAM
Pfam:Pkinase_Tyr	373	578	1.9e-19	PFAM
coiled coil region	585	619	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000110717
AA Change: N3S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000106345
Gene: ENSMUSG00000029607
AA Change: N3S

Domain	Start	End	E-Value	Type
Blast:ANK	28	57	6e-11	BLAST
ANK	78	103	1.6e0	SMART
ANK	107	160	5.6e0	SMART
ANK	166	195	8.4e-5	SMART
ANK	199	228	5.3e-6	SMART
ANK	233	272	2.4e-2	SMART
ANK	276	305	2.3e-6	SMART
Blast:ANK	309	342	5e-11	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000110718

SMART Domains

Protein: ENSMUSP00000106346
Gene: ENSMUSG00000029607

Domain	Start	End	E-Value	Type
ANK	35	60	2.55e2	SMART
ANK	64	117	8.5e2	SMART
ANK	123	152	1.27e-2	SMART
ANK	156	185	7.95e-4	SMART
ANK	190	229	3.74e0	SMART
ANK	233	262	3.46e-4	SMART
Blast:ANK	266	299	4e-11	BLAST

Meta Mutation Damage Score

0.1014

Coding Region Coverage

1x: 81.5%
3x: 73.9%
10x: 52.8%
20x: 32.9%

Validation Efficiency

94% (83/88)

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aars1	G	A	8: 111,769,891 (GRCm39)	R330Q	possibly damaging	Het
Amph	A	T	13: 19,284,823 (GRCm39)	S250C	possibly damaging	Het
Camsap2	C	T	1: 136,209,630 (GRCm39)	E621K	probably damaging	Het
Cpt2	A	G	4: 107,765,171 (GRCm39)	S152P	probably damaging	Het
Csmd1	T	A	8: 15,967,248 (GRCm39)	Q3205L	probably damaging	Het
Dag1	G	T	9: 108,084,552 (GRCm39)	P863Q	probably damaging	Het
Dclk1	A	G	3: 55,163,480 (GRCm39)	I191V	probably benign	Het
Ddhd1	A	G	14: 45,847,967 (GRCm39)	L567P	probably damaging	Het
Enox1	T	C	14: 77,936,750 (GRCm39)		probably benign	Het
Exoc3	T	C	13: 74,347,658 (GRCm39)	E104G	probably damaging	Het
Foxp1	T	A	6: 99,139,930 (GRCm39)	Q17L	probably damaging	Het
Fscn1	A	G	5: 142,956,449 (GRCm39)		probably benign	Het
Fut8	T	C	12: 77,411,811 (GRCm39)	V91A	probably benign	Het
Gm5475	T	A	15: 100,322,083 (GRCm39)	Y77*	probably null	Het
Gm5800	T	C	14: 51,953,605 (GRCm39)		probably benign	Het
Hs2st1	T	A	3: 144,143,405 (GRCm39)	K213*	probably null	Het
Il5ra	T	A	6: 106,719,647 (GRCm39)	Y62F	probably damaging	Het
Inpp5d	A	G	1: 87,635,851 (GRCm39)	E734G	probably damaging	Het
Insig2	A	T	1: 121,234,649 (GRCm39)	C194S	probably damaging	Het
Lemd3	A	C	10: 120,761,361 (GRCm39)	H898Q	possibly damaging	Het
Lrp4	A	G	2: 91,301,548 (GRCm39)	T43A	probably benign	Het
Mast3	C	T	8: 71,236,343 (GRCm39)		probably null	Het
Melk	T	C	4: 44,360,864 (GRCm39)		probably benign	Het
Myo10	C	T	15: 25,666,618 (GRCm39)		probably benign	Het
Nlrc5	G	A	8: 95,216,163 (GRCm39)	V967M	probably benign	Het
Nlrp9b	T	A	7: 19,757,647 (GRCm39)	F295I	probably damaging	Het
Phf3	A	T	1: 30,843,999 (GRCm39)	D1653E	probably benign	Het
Ppfia4	A	T	1: 134,251,827 (GRCm39)	L449Q	probably damaging	Het
Ppp1r16b	T	A	2: 158,599,129 (GRCm39)	I367N	probably damaging	Het
Ralgapb	T	C	2: 158,279,331 (GRCm39)	L139S	probably damaging	Het
Slc20a1	T	C	2: 129,052,692 (GRCm39)	V658A	probably damaging	Het
Son	C	A	16: 91,461,616 (GRCm39)	A347E	probably damaging	Het
Tprg1l	C	A	4: 154,244,594 (GRCm39)	V134L	possibly damaging	Het
Trim24	A	T	6: 37,934,484 (GRCm39)	N733I	probably damaging	Het
Uggt1	A	T	1: 36,225,013 (GRCm39)	D540E	probably benign	Het
Urb2	T	A	8: 124,773,934 (GRCm39)	F1488L	probably damaging	Het
Utp20	T	C	10: 88,634,266 (GRCm39)	D810G	probably benign	Het
Zfp473	T	A	7: 44,383,324 (GRCm39)	K335N	probably damaging	Het

Other mutations in Ankrd61

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01666:Ankrd61	APN	5	143,827,954 (GRCm39)	missense	probably damaging	1.00
R0372:Ankrd61	UTSW	5	143,827,993 (GRCm39)	missense	probably benign	0.00
R0631:Ankrd61	UTSW	5	143,831,697 (GRCm39)	missense	probably damaging	1.00
R2106:Ankrd61	UTSW	5	143,828,564 (GRCm39)	missense	probably damaging	1.00
R2508:Ankrd61	UTSW	5	143,833,894 (GRCm39)	unclassified	probably benign
R3873:Ankrd61	UTSW	5	143,828,646 (GRCm39)	missense	probably damaging	1.00
R5057:Ankrd61	UTSW	5	143,831,613 (GRCm39)	missense	probably benign	0.01
R5386:Ankrd61	UTSW	5	143,828,482 (GRCm39)	missense	possibly damaging	0.63
R6651:Ankrd61	UTSW	5	143,830,438 (GRCm39)	missense	probably damaging	0.98
R8729:Ankrd61	UTSW	5	143,827,803 (GRCm39)	missense	probably benign	0.00
R8745:Ankrd61	UTSW	5	143,828,237 (GRCm39)	missense	possibly damaging	0.79
R8815:Ankrd61	UTSW	5	143,831,336 (GRCm39)	missense	probably benign
R9005:Ankrd61	UTSW	5	143,831,676 (GRCm39)	missense	probably benign	0.01
R9110:Ankrd61	UTSW	5	143,831,759 (GRCm39)	missense	possibly damaging	0.65
R9211:Ankrd61	UTSW	5	143,828,358 (GRCm39)	missense	probably benign	0.08
R9510:Ankrd61	UTSW	5	143,828,322 (GRCm39)	missense	possibly damaging	0.62
X0024:Ankrd61	UTSW	5	143,828,619 (GRCm39)	missense	probably null	1.00
X0024:Ankrd61	UTSW	5	143,828,618 (GRCm39)	missense	probably damaging	1.00

Posted On

2012-12-21